Variant report

Variant	rs73216295
Chromosome Location	chr5:112068763-112068764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr5:112068690-112068891	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112041510..112043623-chr5:112066965..112069551,3	MCF-7	breast:
2	chr5:112056712..112059185-chr5:112067106..112069826,2	K562	blood:
3	chr5:112063462..112066944-chr5:112067899..112070429,3	K562	blood:
4	chr5:111496324..111497979-chr5:112068139..112070715,2	K562	blood:
5	chr5:112041486..112046402-chr5:112068342..112076365,12	K562	blood:
6	chr5:112065585..112071178-chr5:112071889..112074120,7	K562	blood:
7	chr5:112050398..112055694-chr5:112065977..112068837,5	K562	blood:
8	chr5:112061615..112063683-chr5:112066303..112069003,3	MCF-7	breast:
9	chr5:112068435..112070448-chr5:112071889..112074072,3	K562	blood:

No data

Variant related genes	Relation type
APC	TF binding region
ENSG00000134982	Chromatin interaction
ENSG00000238363	Chromatin interaction
ENSG00000224032	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11951746	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134881	1.00[AMR][1000 genomes]
rs17134929	1.00[AMR][1000 genomes]
rs17135094	1.00[AMR][1000 genomes]
rs55838903	1.00[AMR][1000 genomes]
rs56004167	1.00[AMR][1000 genomes]
rs56044723	1.00[AMR][1000 genomes]
rs56224801	1.00[AMR][1000 genomes]
rs57076790	1.00[AMR][1000 genomes]
rs57186392	1.00[AMR][1000 genomes]
rs58659317	1.00[AMR][1000 genomes]
rs58929329	1.00[AMR][1000 genomes]
rs60959200	1.00[AMR][1000 genomes]
rs61667491	1.00[AMR][1000 genomes]
rs6866838	1.00[AMR][1000 genomes]
rs6875646	1.00[AMR][1000 genomes]
rs6876184	1.00[AMR][1000 genomes]
rs6895431	1.00[AMR][1000 genomes]
rs73214389	1.00[AMR][1000 genomes]
rs73214399	1.00[AMR][1000 genomes]
rs73216208	1.00[AMR][1000 genomes]
rs73216212	1.00[AMR][1000 genomes]
rs73216228	1.00[AMR][1000 genomes]
rs73216233	1.00[AMR][1000 genomes]
rs73216237	1.00[AMR][1000 genomes]
rs73216300	1.00[AMR][1000 genomes]
rs73218128	1.00[AMR][1000 genomes]
rs73218131	1.00[AMR][1000 genomes]
rs73218137	1.00[AMR][1000 genomes]
rs73218139	1.00[AMR][1000 genomes]
rs73218152	1.00[AMR][1000 genomes]
rs73220040	1.00[AMR][1000 genomes]
rs73220042	1.00[AMR][1000 genomes]
rs73220045	1.00[AMR][1000 genomes]
rs73220047	1.00[AMR][1000 genomes]
rs73788579	1.00[AMR][1000 genomes]
rs73791429	1.00[AMR][1000 genomes]
rs73791483	1.00[AMR][1000 genomes]
rs7728137	1.00[AMR][1000 genomes]
rs7728636	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112046000-112069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:112047400-112072400	Weak transcription	Thymus	Thymus
3	chr5:112052000-112072600	Weak transcription	Primary B cells from cord blood	blood
4	chr5:112052600-112072600	Weak transcription	Primary T cells from cord blood	blood
5	chr5:112054400-112073200	Weak transcription	Pancreas	Pancrea
6	chr5:112058600-112072800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:112059200-112073200	Weak transcription	Left Ventricle	heart
8	chr5:112060000-112072800	Weak transcription	Fetal Heart	heart
9	chr5:112060600-112070000	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:112060800-112069200	Weak transcription	Brain Substantia Nigra	brain
11	chr5:112061000-112072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:112061000-112072800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:112061000-112073000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:112061800-112073000	Weak transcription	Fetal Stomach	stomach
15	chr5:112062200-112073000	Weak transcription	Brain Germinal Matrix	brain
16	chr5:112062400-112072800	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:112062400-112073000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:112062400-112073000	Weak transcription	Fetal Intestine Small	intestine
19	chr5:112065000-112069600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:112065200-112073000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:112065400-112070800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:112066000-112070800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:112066400-112072800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:112066400-112072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:112067000-112072800	Weak transcription	Fetal Kidney	kidney
26	chr5:112067400-112069000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:112067400-112071400	Weak transcription	Brain Anterior Caudate	brain
28	chr5:112067800-112071600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:112067800-112073000	Weak transcription	Psoas Muscle	Psoas
30	chr5:112068000-112069200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:112068000-112070600	Weak transcription	HSMMtube	muscle
32	chr5:112068000-112072200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:112068200-112073200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:112068400-112070800	Weak transcription	HUVEC	blood vessel
35	chr5:112068600-112072600	Weak transcription	Colon Smooth Muscle	Colon

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